Variant report

Variant	nsv8967
Chromosome Location	chr12:40327912-40330937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528593136	chr12:40327992-40327993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550017954	chr12:40328046-40328047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571263125	chr12:40328058-40328059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1353593	chr12:40328069-40328070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571871808	chr12:40328130-40328131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10506139	chr12:40328136-40328137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551334761	chr12:40328155-40328156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529612267	chr12:40328168-40328169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572836512	chr12:40328179-40328180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184498743	chr12:40328195-40328196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34493085	chr12:40328226-40328227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371913274	chr12:40328278-40328279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11174362	chr12:40328301-40328302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534444467	chr12:40328344-40328345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12423682	chr12:40328415-40328416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35942426	chr12:40328451-40328452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548066940	chr12:40328512-40328513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139108217	chr12:40328635-40328636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556884688	chr12:40328654-40328655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189012921	chr12:40328662-40328663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7969011	chr12:40328684-40328685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561147074	chr12:40328693-40328694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143121466	chr12:40328715-40328716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540378897	chr12:40328721-40328722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75381250	chr12:40328730-40328731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7972838	chr12:40328757-40328758	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181453128	chr12:40328759-40328760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4768196	chr12:40328786-40328787	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530346244	chr12:40328873-40328874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147076544	chr12:40328883-40328884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4768197	chr12:40328935-40328936	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs117596291	chr12:40328944-40328945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148139413	chr12:40328960-40328961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571008497	chr12:40328964-40328965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141968211	chr12:40328998-40328999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556722960	chr12:40329038-40329039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4768198	chr12:40329045-40329046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186245140	chr12:40329093-40329094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371264339	chr12:40329127-40329128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190614115	chr12:40329249-40329250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181506842	chr12:40329295-40329296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573195042	chr12:40329320-40329321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528033869	chr12:40329324-40329325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540617383	chr12:40329359-40329360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565404207	chr12:40329371-40329372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532634461	chr12:40329386-40329387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544681247	chr12:40329387-40329388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7960023	chr12:40329432-40329433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559823380	chr12:40329444-40329445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186442365	chr12:40329457-40329458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40316200-40329400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40317800-40329200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:40323600-40337800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:40325400-40329600	Weak transcription	Ovary	ovary
5	chr12:40326400-40328800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:40326400-40330800	Weak transcription	Liver	Liver
7	chr12:40327400-40330600	Weak transcription	Aorta	Aorta
8	chr12:40328200-40332000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr12:40328800-40329800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:40328800-40330400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:40329000-40329600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:40329200-40329400	Enhancers	K562	blood
13	chr12:40329200-40329600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:40329200-40329800	Enhancers	Osteobl	bone
15	chr12:40329400-40329800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:40329400-40329800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:40329400-40330000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr12:40329600-40330000	Enhancers	Ovary	ovary
19	chr12:40329600-40330600	Weak transcription	K562	blood
20	chr12:40329600-40339800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:40330000-40340000	Weak transcription	Ovary	ovary
22	chr12:40330600-40330800	Enhancers	Aorta	Aorta
23	chr12:40330600-40332000	Enhancers	K562	blood
24	chr12:40330800-40331400	Enhancers	Liver	Liver

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